Diamond-Blackfan anemia 1

Definition

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.

Also known as Diamond-Blackfan anaemia caused by mutation in RPS19, Diamond-Blackfan Anaemia type 1, Diamond-Blackfan anemia 1, Diamond-Blackfan anemia caused by mutation in RPS19, Diamond-Blackfan Anemia type 1, RPS19 Diamond-Blackfan anaemia, RPS19 Diamond-Blackfan anemia — per MONDO

Also identified as

• DOID 0111895 per MONDO
• MESH C567302 per MONDO
• NCIT C176911 per MONDO
• OMIM 105650 per MONDO
• UMLS C2676137 per MONDO

Affected Organs